New research published in Nature Communications has linked a normal cellular process to an accumulation of DNA mutations in cancer and identified cancer-driving mutations in an underexplored part of the genome.

Led by Dr. Jüri Reimand of the Ontario Institute for Cancer Research (OICR), the study centers around a protein called TOP2B, part of a family of enzymes that serve an important function in cells and are targets of common cancer chemotherapies.

Strands of DNA are long and complex, and they often get looped and tangled. When that happens, TOP2B and other topoisomerase proteins make cuts to DNA strands to help untangle and repair them. But Reimand and colleagues found many genetic mutations present at the sites of these cuts.

Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the sacroiliac joints and the spine, for which the pathogenesis is thought to be a result of the combination of host genetic factors and environmental triggers. However, the precise factors that determine one’s susceptibility to AS remain to be unraveled. With 100 trillion bacteria residing in the mammalian gut having established a symbiotic relation with their host influencing many aspects of host metabolism, physiology, and immunity, a growing body of evidence suggests that intestinal microbiota may play an important role in AS. Several mechanisms have been suggested to explain the potential role of the microbiome in the etiology of AS, such as alterations of intestinal permeability, stimulation of immune responses, and molecular mimicry.

What keeps our cells the right size? Scientists have long puzzled over this fundamental question, since cells that are too large or too small are linked to many diseases. Until now, the genetic basis behind cell size has largely been a mystery. New research has, for the first time, identified a gene in the non-coding genome that can directly control cell size.

In a study published in Nature Communications, a team at The Hospital for Sick Children (SickKids) found that a gene called CISTR-ACT acts as a controller of cell growth. Unlike genes that encode for proteins, CISTR-ACT is a long non-coding RNA (or lncRNA) and is part of the non-coding genome, the largely unexplored part that makes up 98% of our DNA. This research helps show that the non-coding genome, often dismissed as “junk DNA,” plays an important role in how cells function.

“Our study shows that long non-coding RNAs and the non-coding regions of the genome can drive important biological processes, including cell size regulation. By carefully examining a wide range of cell types and phenotypes, we identified the first causal long non-coding RNA that directly influences cell size,” says Dr. Philipp Maass, Senior Scientist in the Genetics & Genome Biology program at SickKids, and Canada Research Chair in Non-Coding Disease Mechanisms.

A new genetic mapping strategy reveals how entire networks of genes work together to cause disease, filling in the missing links left by traditional genetic studies. The technique could transform how scientists identify drug targets for complex conditions.

A global research team co-led by VCU expert Kenneth Kendler has produced the most comprehensive genetic map so far, identifying five families of disorders that show a high degree of overlap. An international team of scientists is offering new insight into why people are so often affected by more